JARID2

Last updated
JARID2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases JARID2 , JMJ, jumonji and AT-rich interaction domain containing 2
External IDs OMIM: 601594 MGI: 104813 HomoloGene: 31279 GeneCards: JARID2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001267040
NM_004973

NM_001205043
NM_001205044
NM_021878
NM_001360281

RefSeq (protein)

NP_001253969
NP_004964

NP_001191972
NP_001191973
NP_068678
NP_001347210

Location (UCSC) Chr 6: 15.25 – 15.52 Mb Chr 13: 44.88 – 45.08 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protein Jumonji is a protein that in humans is encoded by the JARID2 gene. [5] [6] JARID2 is a member of the alpha-ketoglutarate-dependent hydroxylase superfamily.

Contents

Jarid2 (jumonji, AT rich interactive domain 2) is a protein coding gene that functions as a putative transcription factor. Distinguished as a nuclear protein necessary for mouse embryogenesis, Jarid2 is a member of the jumonji family that contains a DNA binding domain known as the AT-rich interaction domain (ARID). [7] [8] [9] [10] In vitro studies of Jarid2 reveal that ARID along with other functional domains are involved in DNA binding, nuclear localization, transcriptional repression, [11] and recruitment of Polycomb-repressive complex 2 (PRC2). [12] [13] Intracellular mechanisms underlying these interactions remain largely unknown.

In search of developmentally important genes, Jarid2 has previously been identified by gene trap technology as an important factor necessary for organ development. [7] [11] [14] During mouse organogenesis, Jarid2 is involved in the formation of the neural tube and development of the liver, spleen, thymus and cardiovascular system. [15] [16] Continuous Jarid2 expression in the tissues of the heart, highlight its presiding role in the development of both the embryonic and the adult heart. [7] Mutant models of Jarid2 embryos show severe heart malformations, ventricular septal defects, noncompaction of the ventricular wall, and atrial enlargement. [7] Homozygous mutants of Jarid2 are found to die soon after birth. [7] Overexpression of the mouse Jarid2 gene has been reported to repress cardiomyocyte proliferation through it close interaction with retinoblastoma protein (Rb), a master cell cycle regulator. [11] [14] [17] Retinoblastoma-binding protein-2 and the human SMCX protein share regions of homology between mice and humans. [5]

Model organisms

Jarid2 knockout mouse phenotype
CharacteristicPhenotype
Homozygote viabilityAbnormal
Recessive lethal studyAbnormal
FertilityNormal
Body weightNormal
Anxiety Normal
Neurological assessmentNormal
Grip strengthNormal
Hot plate Normal
Dysmorphology Normal
Indirect calorimetry Normal
Glucose tolerance test Normal
Auditory brainstem response Normal
DEXA Normal
Radiography Normal
Body temperatureNormal
Eye morphologyNormal
Clinical chemistry Normal
Plasma immunoglobulins Normal
Haematology Normal
Peripheral blood lymphocytes Normal
Micronucleus test Normal
Heart weightNormal
Skin HistopathologyNormal
Brain histopathologyNormal
Salmonella infectionNormal [18]
Citrobacter infectionNormal [19]
All tests and analysis from [20] [21]

Model organisms have been used in the study of JARID2 function. A conditional knockout mouse line, called Jarid2tm1a(KOMP)Wtsi [22] [23] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute. [24] [25] [26]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [20] [27] Twenty six tests were carried out and two phenotypes were reported. Homozygous mutant embryos were identified during gestation but almost half showed signs of oedema, and in a separate study, only 1% survived until weaning (significantly less than the Mendelian ratio). The remaining tests were carried out on heterozygous mutant adult mice; no significant abnormalities were observed in these animals. [20]

Related Research Articles

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References

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Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.